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2. Juvenile galactosialidosis in a white male: a new variant. Chitayat D; Applegarth DA; Lewis J; Dimmick JE; McCormick AQ; Hall JG Am J Med Genet; 1988 Dec; 31(4):887-901. PubMed ID: 3149149 [TBL] [Abstract][Full Text] [Related]
4. [A case of galactosialidosis discovered with external strabismus and cherry red spots in late infancy]. Tada H; Miyake S; Yamada M; Iwamoto H; Sakuraba H No To Hattatsu; 1988 Jan; 20(1):69-73. PubMed ID: 3126788 [No Abstract] [Full Text] [Related]
5. Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase. Nanba E; Tsuji A; Omura K; Suzuki Y Hum Genet; 1988 Dec; 80(4):329-32. PubMed ID: 3143661 [TBL] [Abstract][Full Text] [Related]
6. The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. Strisciuglio P; Parenti G; Giudice C; Lijoi S; Hoogeveen AT; d'Azzo A Hum Genet; 1988 Nov; 80(3):304-6. PubMed ID: 3142815 [TBL] [Abstract][Full Text] [Related]
7. Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. Palmeri S; Hoogeveen AT; Verheijen FW; Galjaard H Am J Hum Genet; 1986 Feb; 38(2):137-48. PubMed ID: 3080874 [TBL] [Abstract][Full Text] [Related]
8. Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies. Kuriyama M; Okada S; Tanaka Y; Umezaki H J Neurol Sci; 1980 May; 46(2):245-54. PubMed ID: 6770051 [TBL] [Abstract][Full Text] [Related]
9. Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients. Suzuki Y; Fukuoka K; Sakuraba H; Hayashi K; Ko YM Adv Exp Med Biol; 1982; 152():241-51. PubMed ID: 6814202 [TBL] [Abstract][Full Text] [Related]
10. beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. Sakuraba H; Suzuki Y; Akagi M; Sakai M; Amano N Ann Neurol; 1983 May; 13(5):497-503. PubMed ID: 6408977 [TBL] [Abstract][Full Text] [Related]
11. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. Mueller OT; Henry WM; Haley LL; Byers MG; Eddy RL; Shows TB Proc Natl Acad Sci U S A; 1986 Mar; 83(6):1817-21. PubMed ID: 3081902 [TBL] [Abstract][Full Text] [Related]
12. Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts. Nanba E; Tsuji A; Omura K; Suzuki Y Biochem Biophys Res Commun; 1987 Apr; 144(1):138-42. PubMed ID: 3107551 [TBL] [Abstract][Full Text] [Related]
14. Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. Zammarchi E; Donati MA; Morrone A; Donzelli GP; Zhou XY; d'Azzo A Am J Med Genet; 1996 Aug; 64(3):453-8. PubMed ID: 8862621 [TBL] [Abstract][Full Text] [Related]
15. Urinary oligosaccharide excretion and severity of galactosialidosis and sialidosis. Takahashi Y; Nakamura Y; Yamaguchi S; Orii T Clin Chim Acta; 1991 Dec; 203(2-3):199-210. PubMed ID: 1777981 [TBL] [Abstract][Full Text] [Related]
16. Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. Ahern-Rindell AJ; Prieur DJ; Murnane RD; Raghavan SS; Daniel PF; McCluer RH; Walkley SU; Parish SM Am J Med Genet; 1988 Sep; 31(1):39-56. PubMed ID: 3146925 [TBL] [Abstract][Full Text] [Related]
17. A case of galactosialidosis with a homozygous Q49R point mutation. Matsumoto N; Gondo K; Kukita J; Higaki K; Paragison RC; Nanba E Brain Dev; 2008 Oct; 30(9):595-8. PubMed ID: 18396002 [TBL] [Abstract][Full Text] [Related]
18. [Adult type galactosialidosis--alcohol and myoclonus]. Hashimoto K; Ugawa Y; Nakase H; Kunimoto M; Mannen T Rinsho Shinkeigaku; 1986 Sep; 26(9):941-7. PubMed ID: 3098487 [No Abstract] [Full Text] [Related]
19. [A case of adult type galactosialidosis--with special reference to pharmacologic and neurophysiologic studies on myoclonus]. Yarita H; Kurashina T; Sugano J; Murata K; Fukuda M Rinsho Shinkeigaku; 1988 Nov; 28(11):1234-40. PubMed ID: 3148380 [No Abstract] [Full Text] [Related]
20. Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. Strisciuglio P; Sly WS; Dodson WE; McAlister WH; Martin TC Am J Med Genet; 1990 Dec; 37(4):573-7. PubMed ID: 2148053 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]